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P479 TCF12 - ERF

SALSA MLPA Probemix P479 TCF12 - ERF detects copy number variations in the TCF12 and ERF genes.

Specifications

Contents: 40 MLPA probes, including 25 probes for TCF12, and 5 probes for ERF (covering all exons of both genes).

Tissue: human genomic DNA.

Application: research on craniosynostosis.

For research use only (RUO). Not for use in diagnostics.

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List Prices Documentation

Key related products

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P133 Kallmann-2

Contains probes for the FGFR1 gene, involved in craniosynostosis.

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General information

The SALSA MLPA Probemix P479 TCF12 - ERF is a research use only (RUO) assay for the detection of deletions or duplications in the TCF12 and ERF genes, which are associated with craniosynostosis.

Craniosynostosis is a clinically and genetically heterogeneous condition with a prevalence of ~1 in 2200 births. Several genes have been identified as a cause of craniosynostosis including FGFR1, FGFR2, FGFR3, TWIST1, EFNB1, MSX2, ALX4, ZIC1, SMAD6 and, more recently, TCF12 and ERF. Craniosynostosis is inherited in an autosomal dominant manner and is characterised by abnormal skull growth involving premature fusion of the cranial sutures. As a result, the growth velocity of the skull often cannot match that of the developing brain. This produces skull deformity and, in some cases, raises intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability. More information on TCF12-related and ERF-related craniosynostosis can be found in OMIM #615314 and #600775, respectively.

The TCF12 gene spans ~371 kb of genomic DNA and is located on 15q21.3, 55 Mb from the p-telomere. The TCF12 gene encodes a transcriptional regulator that belongs to the basic helix-loop-helix family. Approximately 10% of all craniosynostoses is caused by heterozygous point mutations in the TCF12 gene (Sharma et al. 2013). Large rearrangements involving the complete TCF12 gene have been described. Intragenic deletions and a duplication in the TCF12 gene were reported in craniosynostosis patients (Goos et al. 2016).

The ERF gene spans ~8 kb of genomic DNA and is located on 19q13.2, 47 Mb from the p-telomere. The ERF gene encodes a transcriptional repressor that belongs to the ETS transcription factors family. No mutations or rearrangements involving the ERF gene have been reported so far. However, it has been shown that reduced dosage of ERF causes complex craniosynostosis in humans and mice (Twigg et al. 2013).

Regulatory status

SALSA MLPA Probemix P479 TCF12 - ERF is for research use only (RUO) in all territories.

Product documentation

Version A1

Other versions

Contact us for earlier versions.

List prices

Product

Item no.
Description
Technology
Price
P479-025R
SALSA MLPA Probemix P479 TCF12 - ERF – 25 rxn
MLPA
€ 296.00
P479-050R
SALSA MLPA Probemix P479 TCF12 - ERF – 50 rxn
MLPA
€ 580.00
P479-100R
SALSA MLPA Probemix P479 TCF12 - ERF – 100 rxn
MLPA
€ 1135.00

Required reagents

A general SALSA MLPA Reagent Kit is required for MLPA experiments (to be ordered separately).

Item no.
Description
Technology
Price
EK1-FAM
SALSA MLPA Reagent Kit – 100 rxn – FAM (6 vials)
MLPA MS-MLPA
€ 361.00
EK1-CY5
SALSA MLPA Reagent Kit – 100 rxn – Cy5 (6 vials)
MLPA MS-MLPA
€ 361.00
EK5-FAM
SALSA MLPA Reagent Kit – 500 rxn – FAM (5×6 vials)
MLPA MS-MLPA
€ 1658.00
EK5-CY5
SALSA MLPA Reagent Kit – 500 rxn – Cy5 (5×6 vials)
MLPA MS-MLPA
€ 1658.00
EK20-FAM
SALSA MLPA Reagent Kit – 2000 rxn – FAM (5×6 vials)
MLPA MS-MLPA
€ 6373.00

Price details & ordering

The prices above are list prices for direct orders from MRC Holland. Contact us for a quote that takes discounts and additional costs (such as shipping costs) into account. Different prices apply for orders through one of our sales partners; contact your local supplier for a quote.

More information about ordering & prices

Positive samples

Inclusion of a positive sample is usually not required, but can be useful for the analysis of your experiments. MRC Holland has very limited access to positive samples and cannot supply such samples. We recommend using positive samples from your own collection. Alternatively, you can use positive samples from an online biorepository, such as the Coriell Institute.

The commercially available positive samples below can be used with the current (A1) version of this product.

Resources

General MLPA resources

MLPA education

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